muCNV: Genotyping Structural Variants for Population-level Sequencing.
basic_science · Level V
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- Record sourced from PubMed, PMID 33760063.
- Also identified by DOI 10.1093/bioinformatics/btab199 and PMC identifier 8496513.
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Abstract
There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task. We developed muCNV that aggregates per-sample summary pileups for joint genotyping of > 100,000 samples. Pilot results show very low Mendelian inconsistencies. Applications to large-scale projects in cloud show the computational efficiencies of muCNV genotyping pipeline. muCNV is publicly available for download at: https://github.com/gjun/muCNV. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Software